First successful pregnancy on peritoneal dialysis in Reunion island

We report the first successful pregnancy on peritoneal dialysis (PD), in 2023, in the overseas territories and departments (DOM-TOM) of France, in LA REUNION island, in a 34-year-old woman, a nurse by profession. She had been treated with continuous ambulatory peritoneal dialysis (CAPD) since February 2022. The original nephropathy was Alport syndrome. Pregnancy began twenty months after the start of dialysis. The patient wished to continue her pregnancy in CAPD in order to carry out exchanges during the day in her office, so as to be more available to her family in the evening. The first trimester of pregnancy was uneventful. During this period, the patient was informed of the risks of pregnancy, and together we defined our objectives with the means available. Adjuvant drug prescriptions (calcium, aspirin, iron, folic acid, vitamin D, etc.) were adapted during the second trimester, as was the PD protocol, in line with defined objectives. The third trimester required largely hospital-based management. Infusion volumes were progressively reduced, while the frequency of infusions was increased, thereby increasing the total daily volume of dialysis.  Residual renal function remained stable throughout the pregnancy, and plasma urea levels were kept below 20 mmol/L. She was delivered by Caesarean section under spinal anaesthesia at 33 weeks and 4 days of amenorrhea, with the birth of a 1,800g boy with Apgar coefficients of 5 at 1min, 8 at 3min and 9 at 5min. The baby's development and growth were very satisfactory. Respect for the patient's choices, her autonomy and her participation in the treatment were decisive factors in the success of the procedure

Première grossesse avec succès en dialyse péritonéale à La Réunion

We report the first successful pregnancy on peritoneal dialysis (PD), in 2023, in the overseas territories and departments (DOM-TOM) of France, in LA REUNION island, in a 34-year-old woman, a nurse by profession. She had been treated with continuous ambulatory peritoneal dialysis (CAPD) since February 2022. The original nephropathy was Alport syndrome. Pregnancy began twenty months after the start of dialysis. The patient wished to continue her pregnancy in CAPD in order to carry out exchanges during the day in her office, so as to be more available to her family in the evening. The first trimester of pregnancy was uneventful. During this period, the patient was informed of the risks of pregnancy, and together we defined our objectives with the means available. Adjuvant drug prescriptions (calcium, aspirin, iron, folic acid, vitamin D, etc.) were adapted during the second trimester, as was the PD protocol, in line with defined objectives. The third trimester required largely hospital-based management. Infusion volumes were progressively reduced, while the frequency of infusions was increased, thereby increasing the total daily volume of dialysis.  Residual renal function remained stable throughout the pregnancy, and plasma urea levels were kept below 20 mmol/L. She was delivered by Caesarean section under spinal anaesthesia at 33 weeks and 4 days of amenorrhea, with the birth of a 1,800g boy with Apgar coefficients of 5 at 1min, 8 at 3min and 9 at 5min. The baby's development and growth were very satisfactory. Respect for the patient's choices, her autonomy and her participation in the treatment were decisive factors in the success of the procedure.Nous rapportons la première grossesse menée avec succès en dialyse péritonéale (DP), en 2023, dans les territoires et départements outre-mer (DOM-TOM) de France, à la REUNION, chez une femme de 34 ans, infirmière de profession. Elle été traitée par dialyse péritonéale continue ambulatoire (DPCA) depuis février 2022. La néphropathie d’origine était un syndrome d’Alport. La grossesse a débuté vingt mois après le début de la dialyse. La patiente a souhaité poursuivre sa grossesse en DPCA afin d’effectuer les échanges durant la journée à son cabinet pour être plus disponible en famille le soir. Le premier trimestre de la grossesse a été sans évènement particulier. Durant cette période la patiente a été informée des risques de la grossesse et nous avons défini ensemble nos objectifs avec les moyens disponibles. Les prescriptions médicamenteuses adjuvantes (calcium, aspirine, fer, acide folique, vitamine D..) ont été adaptées au cours du deuxième trimestre ainsi que le protocole de DP en suivant certains objectifs définis. Le troisième trimestre a nécessité une prise en charge en grande partie hospitalière Les volumes d’infusion ont été progressivement diminués conjointement à une augmentation de leur fréquence qui a permis d’augmenter le volume quotidien total de dialyse.  Elle   a conservé une fonction rénale résiduelle stable pendant tout la durée de la grossesse et le taux d’urée plasmatique a pu être maintenu inférieur à 20 mmol/L L’accouchement a été réalisé par césarienne sous rachianesthésie à 33 semaines et 4 jours d’aménorrhée avec naissance d’un garçon de 1800g dont le coefficient d’Apgar était de 5 à 1min, de 8 à 3min et de 9 à 5min. Le développement du bébé, et sa croissance ont été très satisfaisants. Le respects des choix de la patiente, son autonomie et sa participation au traitement ont été des facteurs déterminants de réussite

Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome

International audienceFryns syndrome (FS) is a multiple malformations syndrome with major features of congenital diaphragmatic hernia, pulmonary hypoplasia, craniofacial dysmorphic features, distal digit hypoplasia, and a range of other lower frequency malformations. FS is typically lethal in the fetal or neonatal period. Inheritance is presumed autosomal recessive. Although no major genetic cause has been identified for FS, biallelic truncating variants in PIGN, encoding a component of the glycosylphosphatidylinositol (GPI)-anchor biosynthesis pathway, have been identified in a limited number of cases with a phenotype compatible with FS. Biallelic variants in PIGN, typically missense or compound missense with truncating, also cause multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1). Here we report six further patients with FS with or without congenital diaphragmatic hernia and recessive loss of function PIGN alleles, including an intragenic deletion with a likely founder effect in La Réunion and other Indian Ocean islands. Our results support the hypothesis that a spectrum of phenotypic severity is associated with recessive PIGN variants, ranging from FS at the extreme end, caused by complete loss of function, to MCAHS1, in which some residual PIGN function may remain. Our data add FS resulting from PIGN variants to the catalog of inherited GPI deficiencies caused by the disruption of the GPI-anchor biosynthesis pathway

Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome

<p>Background Auriculocondylar syndrome (ACS) is a rare craniofacial disorder consisting of micrognathia, mandibular condyle hypoplasia and a specific malformation of the ear at the junction between the lobe and helix. Missense heterozygous mutations in the phospholipase C, beta 4 (PLCB4) and guanine nucleotide binding protein (G protein), a inhibiting activity polypeptide 3 (GNAI3) genes have recently been identified in ACS patients by exome sequencing. These genes are predicted to function within the G protein-coupled endothelin receptor pathway during craniofacial development.</p><p>Results We report eight additional cases ascribed to PLCB4 or GNAI3 gene lesions, comprising six heterozygous PLCB4 missense mutations, one heterozygous GNAI3 missense mutation and one homozygous PLCB4 intragenic deletion. Certain residues represent mutational hotspots; of the total of 11 ACS PLCB4 missense mutations now described, five disrupt Arg621 and two disrupt Asp360. The narrow distribution of mutations within protein space suggests that the mutations may result in dominantly interfering proteins, rather than haploinsufficiency. The consanguineous parents of the patient with a homozygous PLCB4 deletion each harboured the heterozygous deletion, but did not present the ACS phenotype, further suggesting that ACS is not caused by PLCB4 haploinsufficiency. In addition to ACS, the patient harbouring a homozygous deletion presented with central apnoea, a phenotype that has not been previously reported in ACS patients.</p><p>Conclusions These findings indicate that ACS is not only genetically heterogeneous but also an autosomal dominant or recessive condition according to the nature of the PLCB4 gene lesion.</p>